Distal duplication 20q syndrome
Synonyms: Distal trisomy 20q · Telomeric duplication 20q · Trisomy 20qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 20q syndrome | Distal trisomy 20q · Telomeric duplication 20q · Trisomy 20qter |
| fr | Syndrome de duplication distale 20q | Duplication 20qter · Duplication télomérique 20q · Trisomie 20qter · Trisomie distale 20q · Trisomie télomérique 20q |
| de | Distale Duplikation 20q | Distale Trisomie 20q · Duplikation 20q, distale · Telomere Duplikation 20q · Trisomie 20qter |
| es | Síndrome de duplicación terminal 20q | Trisomía 20qter · Trisomía terminal 20q |
| it | Duplicazione 20q distale | Trisomia 20q distale · Duplicazione 20q telomerica · Trisomia 20qter |
| nl | Distale duplicatie 20q-syndroom | Distale trisomie 20q · Telomerische duplicatie 20q · Trisomie 20qter |
| pt | Duplicação distal 20q | Duplicação telomérica 20q · Trissomia 20qter · Trissomia distal 20q |
| pl | Zespół duplikacji dystalnej 20q | Duplikacja dystalna 20q · Duplikacja telomerowa 20q · Trisomia 20qter |
| cs | Distální trizomie 20q | Distální duplikace 20q · Telomerická duplikace 20q · Trizomie 20qter |
| uk | Дистальна дуплікація 20q | Дистальна трисомія 20q · Теломерна дуплікація 20q · Трисомія 20qter |
| zh | 20号染色体长臂远端三体 | 20号染色体长臂端粒重复 |
| tr | Distal trizomi 20q | Trizomi 20qter · Distal duplikasyon 20q · Telomerik duplikasyon 20q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.K0 | NTBT | index | validated |
| MONDO | 0019888 | E | validated | |
| UMLS | C4706935 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262995Partial duplication of the long arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96107
- This record as JSON: /data/d/96107.json